ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) (rs1569316056)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698231 SCV000826883 uncertain significance Early infantile epileptic encephalopathy 9 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 81 of the PCDH19 protein (p.Leu81Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with female-related epilepsy, with or without mental retardation and autistic features, including a pair of monozygotic twins where the variant was reported de novo (PMID: 21053371, 27179713, 22946748). A protein structure study suggests that this missense change is likely to cause PCDH19 protein misfolding or structural instability (PMID: 27787195). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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